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23. Homocysteine and cysteine loads in patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B-6. Rassin DK; Longhi RC; Sternowsky HJ; Sturman JA; Gaull GE Clin Chim Acta; 1977 Aug; 79(1):197-210. PubMed ID: 890952 [TBL] [Abstract][Full Text] [Related]
24. Affinity of cystathionine beta-synthase for pyridoxal 5'-phosphate in cultured cells. A mechanism for pyridoxine-responsive homocystinuria. Lipson MH; Kraus J; Rosenberg LE J Clin Invest; 1980 Aug; 66(2):188-93. PubMed ID: 7400312 [TBL] [Abstract][Full Text] [Related]
25. The molecular defect in a case of (cystathionine beta-synthase)-deficient homocystinuria. Griffiths R; Tudball N Eur J Biochem; 1977 Apr; 74(2):269-73. PubMed ID: 404147 [TBL] [Abstract][Full Text] [Related]
26. Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria. Dawson PA; Cox AJ; Emmerson BT; Dudman NP; Kraus JP; Gordon RB Eur J Hum Genet; 1997; 5(1):15-21. PubMed ID: 9156316 [TBL] [Abstract][Full Text] [Related]
27. Severe folate deficiency and pancytopenia in a nutritionally deprived infant and homocystinuria caused by cystathionine beta-synthase deficiency. Wagstaff J; Korson M; Kraus JP; Levy HL J Pediatr; 1991 Apr; 118(4 Pt 1):569-72. PubMed ID: 2007933 [No Abstract] [Full Text] [Related]
28. Higher total plasma homocysteine in vitamin B12 deficiency than in heterozygosity for homocystinuria due to cystathionine beta-synthase deficiency. Brattström L; Israelsson B; Lindgärde F; Hultberg B Metabolism; 1988 Feb; 37(2):175-8. PubMed ID: 3340005 [TBL] [Abstract][Full Text] [Related]
29. Platelet and monocyte variables in homocystinuria due to cystathionine-beta-synthase deficiency. Coppola A; Albisinni R; Madonna P; Pagano A; Cerbone AM; Di Minno G Haematologica; 1997; 82(2):189-90. PubMed ID: 9175326 [TBL] [Abstract][Full Text] [Related]
30. Homocystinuria due to cystathionine synthase deficiency: clinical-roentgenologic correlations. Brill PW; Mitty HA; Gaull GE Am J Roentgenol Radium Ther Nucl Med; 1974 May; 121(1):45-54. PubMed ID: 4833887 [No Abstract] [Full Text] [Related]
32. Homocystinuria. Przyrembel H Ergeb Inn Med Kinderheilkd; 1982; 49():77-135. PubMed ID: 7049692 [No Abstract] [Full Text] [Related]
33. Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. Kluijtmans LA; Boers GH; Stevens EM; Renier WO; Kraus JP; Trijbels FJ; van den Heuvel LP; Blom HJ J Clin Invest; 1996 Jul; 98(2):285-9. PubMed ID: 8755636 [TBL] [Abstract][Full Text] [Related]
34. Cystathionine beta-synthase is enriched in the brains of Down's patients. Ichinohe A; Kanaumi T; Takashima S; Enokido Y; Nagai Y; Kimura H Biochem Biophys Res Commun; 2005 Dec; 338(3):1547-50. PubMed ID: 16274669 [TBL] [Abstract][Full Text] [Related]
35. Cystathionine-synthase-deficient patients do not use the transamination pathway of methionine to reduce hypermethioninemia and homocystinemia. Blom HJ; Boers GH; Trijbels JM; van Roessel JJ; Tangerman A Metabolism; 1989 Jun; 38(6):577-82. PubMed ID: 2725296 [TBL] [Abstract][Full Text] [Related]
36. Cystathionine synthase activity in human lymphocytes: induction by phytohemagglutinin. Goldstein JL; Campbell BK; Gartler SM J Clin Invest; 1972 Apr; 51(4):1034-7. PubMed ID: 5014609 [TBL] [Abstract][Full Text] [Related]
37. [Homocystinuria. Clinical review and report of a case]. Zammarchi E; Borgheresi S Minerva Pediatr; 1976 Apr; 28(12-3):730-42. PubMed ID: 792676 [No Abstract] [Full Text] [Related]
39. Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. de Franchis R; Kraus E; Kozich V; Sebastio G; Kraus JP Hum Mutat; 1999; 13(6):453-7. PubMed ID: 10408774 [TBL] [Abstract][Full Text] [Related]
40. Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts. Bittles AH; Carson NA J Inherit Metab Dis; 1981; 4(1):3-6. PubMed ID: 6785521 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]